USH1F is one of the subtypes of Usher syndrome type 1, caused by mutations in the PCDH15 gene. Mutations to the PCDH15 gene result in a dysfunctional protocadherin-15 protein, changing the structure and function of hair cells in the inner ear and photoreceptor cells in the eye. This results in the death of these cells which leads to hearing and vision loss. Researchers used zebrafish models of USH1F to see if the antioxidant compound hexafluoro could improve the visual function of the zebrafish with USH1F. Their research found that hexafluoro could slow down photoreceptor cell death of zebrafish with USH1F, thus improving visual function. The researchers believe these data show that oxidative stress (which is when there is an imbalance of free radicals and antioxidants in a person’s body) could be a mechanism behind USH1F visual symptoms. They also suggest that hexafluoro may be able to stabilize the dysfunctional photoreceptors by preventing oxidative stress.
What this means for Usher syndrome: While this research is still at a very early stage, the results suggest that hexafluoro, or other antioxidants, may be a potential therapy to slow down photoreceptor cell death associated with Usher syndrome.
